Navigating genetic diagnostics in patients with hearing loss.
Curr Opin Pediatr. 2016 Dec;28(6):705-712
Authors: Sloan-Heggen CM, Smith RJ
PURPOSE OF REVIEW: In the age of targeted genomic enrichment and massively parallel sequencing, there is no more efficient genetic testing method for the diagnosis of hereditary hearing loss. More clinical tests are on the market, which can make choosing good tests difficult.
RECENT FINDINGS: More and larger comprehensive genetic studies in patients with hearing loss have been published recently. They remind us of the importance of looking for both single nucleotide variation and copy number variation in all genes implicated in nonsyndromic hearing loss. They also inform us of how a patient’s history and phenotype provide essential information in the interpretation of genetic data.
SUMMARY: Choosing the most comprehensive genetic test improves the chances of a genetic diagnosis and thereby impacts clinical care.
PMID: 27552069 [PubMed – indexed for MEDLINE]